title: Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
authors.affiliation: Department of Biochemistry, University College, Cork, Ireland.
authors.forename: B M
authors.initials: BM
authors.lastname: Manning
authors.forename: K A
authors.initials: KA
authors.lastname: Quane
authors.forename: P J
authors.initials: PJ
authors.lastname: Lynch
authors.forename: A
authors.initials: A
authors.lastname: Urwyler
authors.forename: V
authors.initials: V
authors.lastname: Tegazzin
authors.forename: R
authors.initials: R
authors.lastname: Krivosic-Horber
authors.forename: K
authors.initials: K
authors.lastname: Censier
authors.forename: G
authors.initials: G
authors.lastname: Comi
authors.forename: P
authors.initials: P
authors.lastname: Adnet
authors.forename: W
authors.initials: W
authors.lastname: Wolz
authors.forename: J
authors.initials: J
authors.lastname: Lunardi
authors.forename: C R
authors.initials: CR
authors.lastname: Muller
authors.forename: T V
authors.initials: TV
authors.lastname: McCarthy
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D018899:CpG Islands; D003545:Cysteine / Q000235:genetics; D005260:Female; D005838:Genotype; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D006639:Histidine; D001120:Arginine; D003545:Cysteine